Variant report

Variant	nsv821730
Chromosome Location	chr2:134526550-134527973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143707089	chr2:134526564-134526565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs749825	chr2:134526576-134526577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2321301	chr2:134526588-134526589	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6713798	chr2:134526611-134526612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1374396	chr2:134526691-134526692	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1110673	chr2:134526704-134526705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544218555	chr2:134526739-134526740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562819446	chr2:134526784-134526785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55655635	chr2:134526827-134526828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1110672	chr2:134526836-134526837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1110671	chr2:134526877-134526878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190653872	chr2:134526881-134526882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528589551	chr2:134526922-134526923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75369487	chr2:134527020-134527021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527502179	chr2:134527029-134527030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183310763	chr2:134527034-134527035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529293217	chr2:134527063-134527064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550538344	chr2:134527118-134527119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371962227	chr2:134527120-134527121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569241730	chr2:134527128-134527129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539707909	chr2:134527137-134527138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143182751	chr2:134527183-134527184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576137510	chr2:134527206-134527207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76556969	chr2:134527217-134527218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533898803	chr2:134527241-134527242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187800562	chr2:134527263-134527264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192908638	chr2:134527342-134527343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368191989	chr2:134527365-134527366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148978519	chr2:134527366-134527367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72843273	chr2:134527378-134527379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79097120	chr2:134527379-134527380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151110274	chr2:134527415-134527416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545275893	chr2:134527432-134527433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560304368	chr2:134527453-134527454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572186866	chr2:134527459-134527460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73957207	chr2:134527510-134527511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562067655	chr2:134527522-134527523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529330139	chr2:134527539-134527540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41455444	chr2:134527543-134527544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs562513619	chr2:134527549-134527550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114230122	chr2:134527600-134527601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79655603	chr2:134527611-134527612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114844270	chr2:134527649-134527650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540569677	chr2:134527680-134527681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12989210	chr2:134527700-134527701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573708179	chr2:134527719-134527720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141109025	chr2:134527791-134527792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12989443	chr2:134527807-134527808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556198227	chr2:134527863-134527864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183029422	chr2:134527879-134527880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134523600-134532400	Weak transcription	Right Ventricle	heart
2	chr2:134524000-134529400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:134524000-134530800	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:134524000-134531200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:134524200-134531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:134524400-134531000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:134524600-134531200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:134524600-134531600	Weak transcription	Fetal Stomach	stomach
9	chr2:134524600-134537200	Weak transcription	NHLF	lung
10	chr2:134524800-134531400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:134524800-134531600	Weak transcription	Left Ventricle	heart
12	chr2:134524800-134531800	Weak transcription	Ovary	ovary
13	chr2:134525600-134527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:134525800-134526800	Enhancers	NHEK	skin
15	chr2:134525800-134527000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:134526000-134526600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:134526000-134526600	Enhancers	Hela-S3	cervix
18	chr2:134526000-134526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:134526000-134527000	Enhancers	Esophagus	oesophagus
20	chr2:134526200-134526600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:134526200-134526800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:134526200-134527000	Enhancers	Brain Anterior Caudate	brain
23	chr2:134526200-134527000	Enhancers	Right Atrium	heart
24	chr2:134526200-134531200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:134526400-134531200	Weak transcription	Fetal Heart	heart
26	chr2:134526400-134531400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:134526400-134531600	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:134526600-134531400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:134527000-134531000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:134527000-134531000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:134527000-134532000	Weak transcription	Esophagus	oesophagus
32	chr2:134527000-134532000	Weak transcription	Right Atrium	heart
33	chr2:134527600-134530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links